Vascular Malformations of the Head & Neck

Transcription

1 Vascular Malformations of the Head & Neck Jared Steinklein, MD Lenox Hill Hospital The New York Head & Neck Institute Vascular Birthmark Institute of New York Disclosures The presenter has no financial disclosures relevant to this educational material Acknowledgements Background of vascular malformations: Dr. Deborah Shatzkes Lenox Hill Hospital Case contribution and mentorship Dr. Alex Chau Case Contribution Vascular Birthmark Institute of New York Interdisciplinary Care Quintessential text for both vascular tumors and malformations Congenital malformations of vascular networks NOT TUMORS! No neoplastic proliferation -oma suffix is misleading (i.e. lymphangioma, cavernoma) Classification ISSVA Imaging provides lesion characterization and mapping Accurate diagnosis is key Misdiagnosis can lead to ineffective therapy Classification Nomenclature has been the major obstacle to our understanding and management of vascular anomalies -Mulliken JA, in Mulliken & Young s Vascular Anomalies, 2 nd Edition, 2013 ISSVA Classification of Vascular Anomalies 2014 International Society for the Study of Vascular Anomalies Available at: issva.org/classification SLOW FLOW HIGH FLOW Hamburg Classification Further specifies by Composition (subtype) (AVM, VM, VLM, LM, CM) Distribution Extratruncular (head & neck) Diffuse infiltrative malformation of primitive network Limited localized defects of vascular morphogenesis Truncular

2 Historically In 1863, Virchow described angioma as any vascular mass Until 1982 (Mulliken & Glowacki), hemangioma was used for varied vascular lesions in literature across multiple disciplines A wastebasket term Out with the old, in with the new! (Not a tumor!) Venous or cavernous angioma is VENOUS MALFORMATION Capillary hemangioma is CAPILLARY MALFORMATION Lymphangioma is LYMPHATIC MALFORMATION AVM is AVM Lymph, blood, thrombus, inflammatory cells Sometimes necessary to rule out malignancy Rapidly growing with worrisome imaging Image from: Zhu, C, et al. Phlebology 2012:doi: /phleb Clinical Presentation Embryology Vascular malformations: aberrations in MESODERM development Occur along muscle, connective tissue and fat, for example almost anywhere in the head & neck Slowly growing congenital remnant 7th gestational week- anterior cardinal vein subdivision Extratruncular malformations (head & neck) arise from primitive reticular endothelium of this early vascular network Not a tumor! Present at birth, may NOT be evident until childhood or later Depends on lesion flow: AVM: Erythema, skin ulceration, thrill VM: Mass, bluish discoloration, heaviness LM: Mass/swelling that comes and goes Depends on lesion location: Vital real estate in head & neck Orbits, airway, skull base From: Nozaki et al, Radiographics. 2013, 33(1), Superficial lesions detected earlier Syndromes featuring vascular malformations VASCULAR MALFORMATION INFANTILE HEMANGIOMA Histobiology Defect in fetal angiogenesis, Local or diffuse Vascular Tumor, GLUT 1 + Clinical behavior Present at birth Slow, somatic growth** Does NOT involute Month or so after birth with rapid growth Treatment Pathology New immunostaining and biochemical markers yield more accurate diagnoses today GLUT-1 is NEGATIVE in malformations Distinguishes from neoplasm (hemangioma) Microscopy: Endothelial lined spaces, with varied intervening tissue +/- inflammatory change Content depends on malformed channel Conservative, if small Medical or surgical resection, Surgical or I.R. options for if symptomatic embolization/sclerotherapy **May have alarming rapid growth, secondary to trauma, infection, hemorrhage or hormonal stimulation Klippel-Trenaunay Syndrome (VM) Sturge-Weber Syndrome (CM) Gorham-Stout Disease (LM, VM) Sturge-Weber Syndrome! Klippel-Trenaunay Syndrome Calvarial intraosseous VMs, path-proven Mistaken for multiple myeloma

3 Syndromic Vascular Malformations many, many more Arteriovenous Malformations (AVM) Anomalous arterial-to-venous connection WITHOUT normal intervening capillary bed May present later in childhood/puberty Erythema and calor Skin ulceration and bleeding, venous hypertension Overgrowth of regional tissue +/- ischemia Thrill or bruit TREATMENT: From: Nozaki et al, Radiographics. 2013, 33(1), Imaging of AVM - MRI Flow voids! Conventional angiogram needed for mapping and planning Embolization challenge, both arterial and venous side Surgery to debulk MRI of AVM Diffuse, trans-spatial, bilateral T2 signal is moderate Regional anatomy affected: Fatty hypertrophy " Local hyperemia Skin ulceration Bone hyperostosis +/- intraosseous channels Hyperemia/hypertrophy adjacent to true AVM Osseous involvement Expansion of marrow space Mixed sclerotic/lucent Extra- and intra-osseous vascular channels. Flow voids

4 AVM Treatment - IR Capillary Malformations (CM) Complexity may limit options for endovascular therapy Percutaneous, direct puncture Most obvious at birth Better access for targeted embolization Strawberry malformation, port-wine stain or telangiectasia Embolization: Onyx, N-BCA Sclerosing agent: Sodium tetradecyl sulphate, alcohol, bleomycin Skin and subcutaneous involvement (infrequently imaged) Skeletal overgrowth when large Vast majority are isolated Only 1-2% of facial CM seen with Sturge-Weber Syndrome Case courtesy of Alex Chau, MD Texas Children s Hospital Clinical consequences are mostly cosmetic If large, bony growth and orbital compromise are possible Imaging of CM Sturge-Weber Syndrome Superficial lesions Encephalotrigeminalangiomatosis Non-hereditary, GNAQ gene mutation Sporadic anomaly of mesodermal and ectodermal development (neuroectoderm) Port-wine stain present at birth Seen at birth Imaging not necessary for diagnosis MRI- STIR & T1-FS postcontrast Facial CM: Brain MRI to assess potential CNS anomaly *Sturge-Weber Syndrome CM: Only subtle skin/subcutaneous enhancement (arrow) Sturge-Weber Syndrome Venous Malformations (VM) Classic V1/2 distribution Seizures, developmental delay IMAGING: CT: Mineralizing angiopathy, hemiatrophy MR: Diffuse pial angiomatosis (arrow) *Choroid plexus angioma (dashed arrow) Ultrasound Imaging of VM Malformed venous channels, sinusoids or lakes Venous blood pool will enhance, avidly Grows along and replaces anatomy (mesoderm) Slow-flow MRI T2-w signal is HIGH. No flow voids Stasis of blood = thrombosis, phleboliths May present with bluish discoloration or mass, swelling Enlarges with thrombosis Common lesion! 2.6% prevalence in one autopsy study Lobulated mass of mixed echogenicity Compressible! Shadowing from calcified phleboliths Color flow. Doppler interrogation venous waveforms

5 Clinical appearance tip of the iceberg MR Imaging of VM T2 very hyperintense -iso to CSF on STIR +++ Enhancement -Contrast accumulates in malformed venous cluster Increased enhancement on later pulse sequences (arrow) MRI illustrates deep and trans-spatial extent of vascular malformations Phleboliths Trans-spatial: Spans between spaces of the H&N The pearls of vascular malformations Stasis of blood leads to small thrombi with chronic lamellated calcification HIGHLY SPECIFIC TO VM! Common sites: Masticator space, buccal/retroantral fat, orbits, oral cavity/oropharynx Diffuse VM Delayed enhancement VM: slow flow lesion STIR T1-FS + Progressive contrast accumulation in VM observed on coronal scan, done ~4-5 minutes after axial

6 Orbital cavernous VM Osseous involvement (not hemangioma!) Most common orbital mass Slow-flow lesion with gradual enhancement Greater enhancement after 5 min delay Intraosseous venous malformations Intraosseous venous malformations Formerly known as osseous hemangioma Expansile appearance may be confused for more aggressive pathology Biopsy should be avoided unless rapidly growing Classic imaging appearance Well-circumscribed Expansile Internal stippling of bony trabecula T2++ and avidly enhancing (like a VM should) Slow-flow venous channels within bone Figures from Zhu, C, et al. Phlebology 2012: doi: /phleb Calvarial involvement of VM with encephalocele Histological image of osseous venous malformation. Black arrow indicates abnormal vessel wall lined by endothelial cells. Bone is also present ( white arrow). Credit: Zhu, C et al. CD31 immunostaining. Bone ( white arrow) and endothelial cells (black arrow) are demonstrated. Credit: Zhu, C et al. Pre- and post-sclerotherapy of VM Treatment of VM Indicated for: Cosmesis Functional impairment: orbit, airway Bleeding Consumptive coagulopathy PRETHERAPY Direct puncture Sclerosing agents Sodium tetradecyl sulphate Alcohol Bleomycin POSTTHERAPY Embolic agents N-BCA (N-butyl cyanoacrylate) Onyx Case courtesy of Alex Chau, MD Case courtesy of Alex Chau, MD

7 Pre- and post-sclerotherapy of VM Lymphatic Malformations (LM) Case: Neck swelling/mass with exertional dyspnea PRETHERAPY Direct puncture and bleomycin injection POSTTHERAPY Below: Pre- and posttreatment photos Case courtesy of Alex Chau, MD LM with macrocysts - ultrasound Endothelial-lined and septated channels/ pools of lymph Two varieties Macrocyst predominant Microcyst predominant Similar distribution to VM Prone to hemorrhage and infection Late and abrupt clinical presentation when small/occult at birth Orbital LM may present acutely with proptosis LM with macrocysts - MRI STIR T1 pre-contrast T1-FS + T1 and T2 signal isointense to CSF Post-gadolinium Lobulated mass with NO DETECTABLE FLOW Macrocyst- anechoic, except for septae or debris Microcyst-predominant LM Beard oral cavity distribution is typical of slow flow lesions (LM or VM) Often mixed macro- and microcystic No internal enhancement Septae may have thin enhancement Fluid-fluid levels when hemorrhagic (highly specific) Classic LM, prenatal diagnosis Cystic hygroma Lymphangioma - outdated term

8 Sclerotherapy of LM Fluid-fluid levels Hemorrhage into LM is common HIGHLY specific for LM Orbital LM: Acute proptosis may be presenting sign Ultrasound-guided direct injection Bleomycin or doxycycline T2-w MRI, pre-treatment Macrocyst (arrow) most amenable to sclerotherapy Precontrast T1 (left) shows hyperintense signal of hemorrhage (arrow) Treatment of LM Sclerotherapy of LM PRE-TREATMENT: POST-TREATMENT: Case courtesy of Alex Chau, MD Gorham-Stout Disease Post direct puncture and sclerotherapy Pre-treatment Hematocrit level on T1-w MR Post-treatment Lymphangiomatosis Vanishing bone disease Rare, cause is unknown Localized or diffuse osteolysis Syndrome comprised of bony vascular malformations VM or LM Case courtesy of Alex Chau, MD Multiple sites/organs involved Cervical spine compression deformity

9 Combined vascular malformations Rare Most frequently encountered is veno-lymphatic malformation May be suggested based on imaging Mixed enhancement Blood and lymph channels Partially thrombosed VM (more common) Pathology Similar endothelial structures make precise classification challenging Summary of Vascular Malformations Fast-flow Arterial flow on US or flow voids on MRI Slow-flow High T2 signal, iso- to CSF Enhancement Avid and increased on delay = VM None or only septal = LM Hazy, diffuse and beyond flow voids = AVM Phelboliths HIGHLY SPECIFIC for VM Fluid-hemorrhage level HIGHLY SPECIFIC FOR LM TAKE HOME POINTS Simplified MRI Algorithm for Vascular Lesions Term hemangioma should be used for true neoplasms Get the clinical history. For an infant, was it present AT BIRTH? Treatment Multidisciplinary approach: hematologist, H&N surgeon, diagnostic and interventional radiologists LM sclerotherapy, best for macrocysts VM direct puncture sclerotherapy or embolization AVM catheter angiogram, arterial and venous embolization High T2 signal Moderate T2 signal +++ Enhancement -/+ Enhancement Venous Malformation Neoplasm, i.e. hemangioma Lymphatic Malformation AVM Low T2- flow void SLOW FLOW LESIONS BRIGHT ON T2 Credit to Deborah Shatzkes, MD THANK YOU